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Author Details

Irma J??rvel??
University of Helsinki
1989
178
44
PMIDPaper TitleJournal TitlePublished Year
34321324Delineating the genotypic and phenotypic spectrum of <i>HECW2</i>-related neurodevelopmental disorders.J Med Genet2022
36285626The Finnish genetic heritage in 2022 - from diagnosis to translational research.Dis Model Mech2022
35150090Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G&gt;T variant.Mol Genet Genomic Med2022
32867562Music-listening regulates human microRNA expression.Epigenetics2021
33710394Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.Hum Genet2021
34345025Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.Genet Med2021
33982443Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders.Mol Genet Genomic Med2021
31506600Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.Eur J Hum Genet2020
32688058Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion.Eur J Med Genet2020
30914828Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.Eur J Hum Genet2019
31439632Heterozygous loss of function of <i>IQSEC2</i>/<i>Iqsec2</i> leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females.Life Sci Alliance2019
30956902Music-performance regulates microRNAs in professional musicians.PeerJ2019
31152651Causes of Death of Professional Musicians in the Classical Genre.Med Probl Perform Art2019
29570792Genomics studies on musical aptitude, music perception, and practice.Ann N Y Acad Sci2018
27311568Identification of C12orf4 as a gene for autosomal recessive intellectual disability.Clin Genet2017
28967789Exploring genome-wide DNA methylation patterns in Aicardi syndrome.Epigenomics2017
28553957Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.Nat Genet2017
26052927The landscape of copy number variations in Finnish families with autism spectrum disorders.Autism Res2016
28004803Convergent evidence for the molecular basis of musical traits.Sci Rep2016
26909693Creative Activities in Music--A Genome-Wide Linkage Analysis.PLoS One2016
26879527Detecting signatures of positive selection associated with musical aptitude in the human genome.Sci Rep2016
24614497A genome-wide linkage and association study of musical aptitude identifies loci containing genes related to inner ear development and neurocognitive functions.Mol Psychiatry2015
26154559The genetic variant rs4073 Aâ¿¿T of the Interleukin-8 promoter region is associated with the earlier onset of exudative age-related macular degeneration.Acta Ophthalmol2015
25707602Association and Promoter Analysis of AVPR1A in Finnish Autism Families.Autism Res2015
25789207The effect of listening to music on human transcriptome.PeerJ2015
25806429The effect of music performance on the transcriptome of professional musicians.Sci Rep2015
25385192Variants in CUL4B are associated with cerebral malformations.Hum Mutat2015
24721225X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.Orphanet J Rare Dis2014
25582014[Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities].Duodecim2014
25154354Genomics approaches to study musical aptitude.Bioessays2014
24534755The IL-8, VEGF, and CFH polymorphisms and bevacizumab in age-related macular degeneration.Ophthalmology2014
23591402The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population.Eur J Hum Genet2013
23460800Genome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music.PLoS One2013
23584701Interleukin 8 promoter polymorphism predicts the initial response to bevacizumab treatment for exudative age-related macular degeneration.Retina2013
22140259Acquisition of complement factor H is important for pathogenesis of Streptococcus pyogenes infections: evidence from bacterial in vitro survival and human genetic association.J Immunol2012
22229731A novel mutation W388X underlying properdin deficiency in a Finnish family.Scand J Immunol2012
22346768Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.PLoS Genet2012
21235777Lactase persistence genotypes and malaria susceptibility in Fulani of Mali.Malar J2011
22078123Lactase non-persistent genotype influences milk consumption and gastrointestinal symptoms in Northern Russians.BMC Gastroenterol2011
21888043[Current status of genome research on open-angle glaucoma in Finland].Duodecim2011
21384559Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD).Autism Res2011
21307861Association of the arginine vasopressin receptor 1A (AVPR1A) haplotypes with listening to music.J Hum Genet2011
20410850Analysis of 9p24 and 11p12-13 regions in autism spectrum disorders: rs1340513 in the JMJD2C gene is associated with ASDs in Finnish sample.Psychiatr Genet2010
20971742Lack of complement inhibitors in the outer intracranial artery aneurysm wall associates with complement terminal pathway activation.Am J Pathol2010
20509822The -13914G&gt;A variant upstream of the lactase gene (LCT) is associated with lactase persistence/non-persistence.Scand J Clin Lab Invest2010
20442744Linkage and candidate gene studies of autism spectrum disorders in European populations.Eur J Hum Genet2010
20593630[Properdin mutations a risk factor for meningitis].Duodecim2010
20122735Screening of DNA-variants in the properdin gene (CFP) in age-related macular degeneration (AMD).Mol Immunol2010
19035560Allelic variants in HTR3C show association with autism.Am J Med Genet B Neuropsychiatr Genet2009
19863546Novel PORCN mutations in focal dermal hypoplasia.Clin Genet2009
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Collaborators

Leena Peltonen
Co-authored papers 36
P??ivi Onkamo
University of Turku
Co-authored papers 13
Liisa Ukkola-Vuoti
Department of Public Health Solutions, National Institute for Health and Welfare
Co-authored papers 9
Karola Rehnström
Co-authored papers 9
Jaana Oikkonen
University of Helsinki
Co-authored papers 9
Pirre Raijas
Jarvenpaa Music Institute
Co-authored papers 9
Kai Karma
DocMus Department, University of the Arts Helsinki
Co-authored papers 8
Mikko Kuokkanen
Co-authored papers 7
Chakravarthi Kanduri
University of Oslo
Co-authored papers 7
Suzanne M Leal
Center for Statistical Genetics, Columbia University Medical Center
Co-authored papers 5
Aarno Palotie
Co-authored papers 5
Patricia B Munroe
Co-authored papers 5
Peter E M Taschner
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Christine Blancher
Co-authored papers 3
Christian Gilissen
Radboud University Medical Center
Co-authored papers 3
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Monash University
Co-authored papers 3
Carol Forsblom
Folkhalsan Institute of Genetics, Folkhalsan Research Center
Co-authored papers 3
Leena Palotie
Co-authored papers 3
Antti Sajantila
University of Helsinki
Co-authored papers 3
Juha Kere
Folkhalsan Research Center, University of Helsinki
Co-authored papers 3
Gemma Buck
Co-authored papers 3
Outi Kuismin
Co-authored papers 2
Kari Alitalo
Wihuri Research Institute
Co-authored papers 2
Richard Holt
Oxford Brookes University
Co-authored papers 2
Joseph D Terwilliger
Co-authored papers 2
Per-Henrik Groop
Folkhalsan Institute of Genetics, Folkhalsan Research Center
Co-authored papers 2
Agatino Battaglia
Co-authored papers 2
Sabine M Klauck
Co-authored papers 2
Marion Leboyer
INSERM U
Co-authored papers 2
Frances Lucy Raymond
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 2
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